ADGRG1 Chromosome 16
Adhesion G protein-coupled receptor G1
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What This Gene Does
This gene encodes a member of the G protein-coupled receptor family and regulates brain cortical patterning. The encoded protein binds specifically to transglutaminase 2, a component of tissue and tumor stroma implicated as an inhibitor of tumor progression. Mutations in this gene are associated with a brain malformation known as bilateral frontoparietal polymicrogyria. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
Gene Info
Gene Group
Adhesion G protein-coupled receptors, subfamily G
Locus Type
gene with protein product
Location
16q21
Ensembl
ENSG00000205336
Associated Conditions (9)
Bilateral frontoparietal polymicrogyria
Inborn genetic diseases
Polymicrogyria
bilateral perisylvian
autosomal recessive
ADGRG1-related disorder
Abnormality of the nervous system
7 conditions
Abnormal cerebral morphology
Key Variants
RS1012168637
Conflicting classifications of pathogenicity
Bilateral frontoparietal polymicrogyria, Inborn genetic diseases, Bilateral frontoparietal polymicrogyria
Health Risk
RS1057517931
Conflicting classifications of pathogenicity
Polymicrogyria, bilateral perisylvian, autosomal recessive
Health Risk
RS111939130
Conflicting classifications of pathogenicity
Bilateral frontoparietal polymicrogyria, Bilateral frontoparietal polymicrogyria
Health Risk
RS112775979
Conflicting classifications of pathogenicity
Bilateral frontoparietal polymicrogyria, Bilateral frontoparietal polymicrogyria
Health Risk
RS112805221
Conflicting classifications of pathogenicity
Bilateral frontoparietal polymicrogyria, ADGRG1-related disorder, Bilateral frontoparietal polymicrogyria
Health Risk
RS113358058
Conflicting classifications of pathogenicity
Bilateral frontoparietal polymicrogyria, Bilateral frontoparietal polymicrogyria
Health Risk
RS121908462
Conflicting classifications of pathogenicity
Bilateral frontoparietal polymicrogyria, Abnormality of the nervous system, Inborn genetic diseases
Health Risk
RS1241910381
Conflicting classifications of pathogenicity
Bilateral frontoparietal polymicrogyria, Bilateral frontoparietal polymicrogyria
Health Risk
RS1367685651
Conflicting classifications of pathogenicity
Health Risk
RS138344683
Conflicting classifications of pathogenicity
Bilateral frontoparietal polymicrogyria, ADGRG1-related disorder, Bilateral frontoparietal polymicrogyria
Health Risk
RS142223451
Conflicting classifications of pathogenicity
Health Risk
RS143389426
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (158)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS121908465 | Health Risk | Pathogenic/Likely pathogenic | Bilateral frontoparietal polymicrogyria, Bilateral frontoparietal polymicrogyria |
| RS146278035 | Health Risk | Pathogenic/Likely pathogenic | Bilateral frontoparietal polymicrogyria, Inborn genetic diseases, Bilateral frontoparietal polymicrogyria |
| RS2044043566 | Health Risk | Pathogenic/Likely pathogenic | Bilateral frontoparietal polymicrogyria, Polymicrogyria, bilateral perisylvian |
| RS587777312 | Health Risk | Pathogenic/Likely pathogenic | Polymicrogyria, bilateral perisylvian, autosomal recessive |
| RS587783657 | Health Risk | Pathogenic/Likely pathogenic | Bilateral frontoparietal polymicrogyria, Bilateral frontoparietal polymicrogyria |
| RS587783660 | Health Risk | Pathogenic/Likely pathogenic | Bilateral frontoparietal polymicrogyria, Bilateral frontoparietal polymicrogyria |
| RS763238723 | Health Risk | Pathogenic/Likely pathogenic | Polymicrogyria, bilateral perisylvian, autosomal recessive |
| RS774109607 | Health Risk | Pathogenic/Likely pathogenic | Bilateral frontoparietal polymicrogyria, Polymicrogyria, bilateral perisylvian |